Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.V108insFs

LPL

1,048 papers

RefSeq Summary

LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor f...

Pfam Domains

Lipaseaa 17–338UCSCLipase
PLATaa 343–463UCSCPLAT/LH2 domain

Gene Aliases

HGNC Name

lipoprotein lipase

HGNC Previous Symbol

LIPD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000237.3
p.V108insFs
c.323_324ins10
Surrounding Variants
3 papers
NM_000237.3
p.V108I
c.322G>A
1 paper
NM_000237.3
p.I109insFs
c.327dupT
1 paper
NM_000237.3
p.I109V
c.325A>G
1 paper
NM_000237.3
p.I109F
c.325A>T
4 papers
NM_000237.3
p.I109T
c.326T>C
2 papers
NM_000237.3
p.V111del1
c.331_332delGTG
1 paper
NM_000237.3
p.D105E
c.315C>A
1 paper
NM_000237.3
p.D105E
c.315C>G
1 paper
NM_000237.3
p.D105_S106insFs
c.315_316insC
1 paper
NM_000237.3
p.D105N
c.313G>A
1 paper
NM_000237.3
p.V111L
c.331G>C
1 paper
NM_000237.3
p.V111L
c.331G>T
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